What is Langer Mesomelic Dysplasia?
- A form of dwarfism
- Affects bone growth
- Incidence unknown
- Mutation of the SHOX gene
- Recessive inheritance pattern less than 70 cases
Diagnosis of Langer Mesomelic Dysplasia
- Before birth by:
- Observation on scan, confirmed by genetic testing
- After birth by:
- Observation of common physical characteristics
- X-rays
What are common characteristics of Langer Mesomelic Dysplasia?
- Severe short stature
- Shortening of lower limbs
- Abnormality of wrist
- Sometimes underdevelopment of jaw
*Please be aware, not all of the characteristics may be present*
Other information about Langer Mesomelic Dysplasia
- Life expectancy is not affected
- Intelligence is not affected
- Can affect boys and girls
- Similar to Léri-Weill Dyschondrosteosis
Genetics of Mesomelic Dysplasia
- Autosomal recessive pattern
Additional reading about Langer Mesomelic Dysplasia
- Genetics Home Reference - Langer Mesomelic Dysplasia
- Rare Disease - Langer Mesomelic Dysplasia
- Orphanet - Langer Mesomelic Dysplasia
- OMIM - Mesomelic Dysplasia
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